“I wanted to live deep and suck out all the marrow of life, to put to rout all that was not life…” -Henry David Thoreau

Echogenic Bowel Syndrome

Wow, well do I have news for you! The last month has been a bit of an emotional roller coaster. What a ride. I’m excited to share this experience with you. About a month ago I got a call from my O.B about a blood test they had done. In my second trimester blood draw they found that I was really high risk for having a child with Downs Syndrome. I was shocked. Especially considering I am still so young, and I don’t have any sort of genetic history. Ryan was shocked as well. I didn’t remember agreeing to participate in the screening program. It was all a bit of a blur as to why I was at high risk. I wasn’t too worried though, most people who are considered ‘high risk’ still have perfectly healthy babies. So they transferred me to a specialist and I had to go to the Anaheim office -Kaiser’s new hospital for an in depth ultra sound and a meeting with a geneticist.

Two weeks went by and I was really looking forward to my appointment. I decided to find out what I was having to give me something to look forward to. Hopefully offset the stress of meeting with these specialists. Luckily my mom happened to be in town so I got a sitter for the boys and we went together to my appointment. We met with a geneticist who explained my blood test results. I had really high levels showing a tendency toward Downs Syndrome. I had no risk for Trisomy 18 or Cystic Fibrosis but my numbers were spiked for Downs Syndrome. Technology is incredible these days. I then went in for an ultra sound with the doctor present looking at everything in depth. Whenever I have had an ultra sound in the past it’s just a technician and if they see something they get a doctor to look things over. At this appointment the doctor was there studying everything very closely, especially areas like his heart, face, and bones. They told me it was another boy. Ya! The general feeling in the room was very serious. After the technician left the Doctor said, ‘Now we will review your results.” She then told me that they actually did find a few markers of down syndrome. I reached over and squeezed my mom’s hand. Inside I just told myself to be strong, “You’re strong, you’re strong, you’re strong.” My mom was holding tight but she couldn’t keep back her hand trembling. The doctor told me that our little boy had what they call echogenic bowel syndrome. It is not very common, it happens in less than 1% of ultra sounds but it is one of the most common signs of Downs Syndrome. It meant that the baby’s bowel was obstructed, the bowel was all lit up on the screen. For some reason the baby’s bowel didn’t seem to be working. It could be blood in the bowel. The doctor asked me, “Did you have a lot of spotting in the beginning of pregnancy?” Answer: None. The other marker was that the baby was also only in the 12% percentile for growth. Babies with Downs Syndrome are very small, they run around the 10th percentile. The baby was about two weeks behind in development. She gave me the option to take the amniocentesis test. It’s interesting because when I heard about this test I thought, ‘NO way! Just for information, I’m not doing that!” Interesting how things change when you’re actually in that spot yourself. My chances that the baby had Downs Syndrome had now tripled, and I wanted to do it. I was assuming that we would have a child with special needs. I could see it in the doctor’s face. Things did not look good. My doctor had been doing amnio’s for 20 years and was really capable, so I was brave and said, “I’ll do it!” They watched the baby on the screen, it was like getting your blood drawn but from my stomach. They just take a little of the fluid out of the womb. They did take a little more than I was expecting. It was probably about ¼ a cup, two small viles. They said I couldn’t lift anything above 20 lbs so – I couldn’t hold Finn or Jude for two whole days, and I needed to take it easy. Ryan was in Dubai, my mom was getting on a plane in two hours, how was I going to take it easy!? What about getting Jude in and out of his crib or the car! It was overwhelming. I was really holding it together pretty well though, I was proud of myself. The plan was to have Ryan on the phone with me, but the hospital had no service and I couldn’t get him. That was by far the hardest part of the whole day. I got on the phone and told him, “Well we are going to have another boy!” Then I had to tell them they found signs of Downs Syndrome, telling Ryan that over the phone, I couldn’t help but cry. I couldn’t hold myself together anymore. When I heard Ryan’s voice, I cracked. Talking to someone who knows me better than anyone. I couldn’t hide what I was truly feeling inside. I couldn’t hold the tears back. I told him about the baby’s bowel, and how the chances had now tripled – he was so strong. He just kept telling me how strong I was how sorry he was that he wasn’t there.

Ryan came home from Dubai, he didn’t want me to have to go through the rest of this alone. His work was great about letting him come home. He’s still working on some projects from home, and had a great experience over there as you know! He was so happy to be home with all of us.

It took the full 14 days to get the test results back. I got them back last night at 8 o’clock. The geneticist that was working with us on our case saw that they were almost done in the lab and waited after hours to call us. It was really kind of her. We had been at the beach the whole day and I thought for sure the call was coming Tueday. For the last week whenever the phone rang my heart just stopped. I really was ready for us to have a special needs child and I had been able to get my head and heart around it and I felt good. I actually was in my own way excited, it wasn’t what we had planned but after the initial shock wore off and with Ryan home, everything felt so much easier. I had come to see that this wasn’t anything tragic – just different. You imagine your life a certain way and it was just a matter of getting a handle on having things look differently. My feelings really were that this boy was just as special as our other boys, he was just going to have some special needs and I was excited to give this boy an awesome name, shower him with love, and welcome him into our home.

I wanted Ryan to hear everything when we the call came. So when I answered the phone and heard it was the geneticist I put the phone on speaker. She said, “Well Heather I have good news for you what’s your birthday so I can confirm your identity?’ I was pretty much mute. (She just said, good news, good news, GOOD NEWS! HB’s in shock) I couldn’t stand, I couldn’t talk, I got my birthday out after Ryan was like, “Heather, YOUR BIRTHDAY!” Struggs HB! Ryan did all the rest of the talking after that. She told me that the baby was a healthy, 46 chromosome boy. He doesn’t have Downs Syndrome, she told me the DNA test confirmed he has the correct number of XY chromosomes, and that he’s a boy. I got off the phone and was just over come with emotion, I cried. The boys were very concerned. What’s wrong with mom! We would have been okay if he had Downs Syndrome, it’s just a shock that he doesn’t. I can’ believe it with all the odds against us.

This experience has been a little traumatic for me. It’s changed my lens on the world, probably forever. I feel very blessed, I look at Finn and Jude and now I really see every child as such a miracle. A healthy baby is never a given. I’m just overwhelmed with love for my family, and I feel like I have a better grasp on what really matters.

I love my wonderful friends! They helped me so much while Ryan was gone. My sweet friend Jamie bringing me frozen yogurt from Chick-Fil-A and just giving me hugs. My friend Michele helped me make Ryan’s poster! Liz helped me put my kids to bed when I couldn’t lift them up, and took my kids to the park when I was just absolutely raw. The first two, three days were an emotional roller coaster. Ryan came home and everything felt right in the world again. We are very happy to be together as a family again. Love you guys. Thanks for all your comments on the blog, they always brighten my day.

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9 responses

More importantly, we’re so happy for your news. While you could have stepped up to another challenge, certainly you’ve already got plenty to keep you anxiously engaged! It’s not possible to put ourselves in your shoes, but know that we share in your relief and happiness!

Oh, Heather!! I read every word. Wow.. I can’t even imagine the full spectrum of emotions you must have been feeling (and probably still are). You are so strong and so brave, I know that for sure. I’m so excited for the news! What a lucky little boy to get to come to your family!

I feel so happy and relieved for you right now. You and Ryan are such a strong and amazing couple; you guys could handle anything that came your way. I’m just so happy that you got some good news. I really admire how strong and brave you have been through all of this. What an example you are. We love you guys and can’t wait to love your new little guy.

So happy to hear the news. You would have been great either way, but it is great to hear that the baby is healthy. We were so concerned for you when we visited. You were holding it together so well, but I could tell you were holding in so many emotions. We love you.

Oh WOW Heather. Childbearing is such a heart-string tugging part of life. Have to agree with everybody that, yes, you could have done it, and yet, it is such a relief to hear that your baby is going to be healthy. Congrats, and best of luck to you guys. What a lovely little family you have.

Heather!!!! I have been thinking about you so much and wondering what the outcome of your test was. I am so THRILLED!! You guys are such an awesome family. Glad to hear that baby number three is another healthy boy.

Heather you are such an amazing gal. I am so happy that that sweet little boy is a healthy little guy. You are such an amazing wife and mother and I have no doubt that you can handle whatever is thrown at you. Thank you for your inspiring attitude and faith, regardless of what the situation would have turned out to be. You are such a rock! Sure love you and can’t wait to see you again. Hang in there!

Great News Guys! Major relief for all out here in Dubai who knew what you were going through. I’m glad that Ryan was there with you and that you were both there for eachother. On a side note I do need to borrow your husband again for a short while! I will hopefully be in the States by 27 July would be nice to meet up and catch up if you guys are free. Love and regards from me and all the guys at TLG!